ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1368C>G (p.Val456=)

gnomAD frequency: 0.00001  dbSNP: rs1433264110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001395712 SCV001597427 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-08-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001526332 SCV001736646 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-12-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006867 SCV004823056 likely benign Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing

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